Publications by authors named "C LeBlond"
Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures.
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- Autism is a common condition influenced by both single gene issues and multiple genes, and many autistic people need better healthcare that genomics can help provide.
- The European Autism GEnomics Registry (EAGER) aims to collect info about autistic people who have had their entire DNA sequenced to help with future research and trials.
- EAGER will involve 1,500 participants from 13 places in 8 countries who will share genetic samples and fill out surveys to help researchers understand the link between genetics and health.
Ascidian embryos have been studied since the birth of experimental embryology at the end of the 19th century. They represent textbook examples of mosaic development characterized by a fast development with very few cells and invariant cleavage patterns and lineages. Ascidians belong to tunicates, the vertebrate sister group, and their study is essential to shed light on the emergence of vertebrates.
View Article and Find Full Text PDFPatients with Ehlers-Danlos Syndrome (EDS) frequently suffer from severe chronic pain. We carried out an observational cohort study to assess the effectiveness of compression garments (CGs) for reducing this pain. Patients with non-vascular EDS were given custom-made Cerecare CGs during a visit to a specialist clinic (visit V0).
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- Over 100 genes are linked to autism, but the prevalence of rare genetic variants in people without an autism diagnosis is not well understood.
- This study analyzed data from over 13,000 individuals with autism and 210,000 without, finding that rare loss-of-function variants in autism-associated genes negatively impact intelligence, education, and income.
- Brain imaging data showed no significant anatomical differences related to these variants, suggesting a need for more research on how genetic factors influence individual experiences beyond autism diagnosis.